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Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency
Simon, Mariella T., Ng, Bobby G., Friederich, Marisa W., Wang, Raymond Y., Boyer, Monica, Kircher, Martin, Collard, Renata, Buckingham, Kati J., Chang, Richard, Shendure, Jay, Nickerson, Deborah A., BLanguage:
english
Journal:
Mitochondrion
DOI:
10.1016/j.mito.2017.02.004
Date:
February, 2017
File:
PDF, 789 KB
english, 2017